Canonical Allele Identifier: CA477217217

Gene: TECTA TBCEL-TECTA

Linked Data

• gnomAD v4: 11-121166612-C-T
• MyVariant Identifiers: chr11:g.121037321C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121166612C>T , CM000673.2:g.121166612C>T	GRCh38
NC_000011.9:g.121037321C>T , CM000673.1:g.121037321C>T	GRCh37
NC_000011.8:g.120542531C>T	NCBI36
NG_011633.1:g.68947C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.5418C>T (TECTA) MANE Select	ENSP00000376543.1:p.Cys1806=
ENST00000642222.1:c.5403C>T (TECTA)	ENSP00000493855.1:p.Cys1801=
ENST00000645008.1:c.2710C>T (TECTA)
ENST00000646278.1:n.1339C>T (TECTA)
ENST00000264037.2:c.5418C>T (TECTA)	ENSP00000264037.2:p.Cys1806=
ENST00000392793.5:c.5418C>T (TECTA)	ENSP00000376543.1:p.Cys1806=
NM_005422.2:c.5418C>T (TECTA)	NP_005413.2:p.Cys1806=
NM_001378761.1:c.6360C>T (TBCEL-TECTA)	NP_001365690.1:p.Cys2120=
NM_005422.4:c.5418C>T (TECTA) MANE Select	NP_005413.2:p.Cys1806=